DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Left ventricular noncompaction ×

Gene: MIB2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	142678
Gene Symbol:	MIB2

MIB2

CUI:	C1960469
Disease:	Left ventricular noncompaction

Left ventricular noncompaction

0.300

SusceptibilityMutation

ORPHANET

MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.

28013292

2017